Abstract
Purpose
Spinal cord diffuse midline glioma (DMG) with H3 K27-alteration is a group of spinal cord high-grade glioma with poor outcome. We present a case with rare onset symptom pattern of pediatric spinal DMG, contributing to the understanding of the clinical presentations and natural history of pediatric spinal cord DMG.
Methods and results
A 7-year-old boy was admitted due to symptoms of intracranial hypertension without obvious spinal cord-related symptoms. Head radiological examinations, blood and cerebral spinal fluid tests did not support intracranial lesion, infection, or autoimmune diseases. Spinal magnetic resonance imaging revealed intraspinal occupying lesion with leptomeningeal dissemination. Pathology of the lesion verified DMG with H3 K27M-alteration.
Conclusion
Pediatric DMG with leptomeningeal dissemination could present with initial symptoms of intracranial hypertension without obvious spinal cord-related symptoms. Spinal cord examinations in cases of intracranial hypertension with negative head radiological examination results could be valuable in finding the etiology.
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Data availability
The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.
References
Louis DN, Perry A, Wesseling P, Brat DJ, Cree IA, Figarella-Branger D, Hawkins C, Ng HK, Pfister SM, Reifenberger G, Soffietti R, von Deimling A, Ellison DW (2021) The 2021 WHO classification of tumors of the central nervous system: a summary. Neuro Oncol 23(8):1231–1251. https://doi.org/10.1093/neuonc/noab106
Jones C, Karajannis MA, Jones DTW, Kieran MW, Monje M, Baker SJ, Becher OJ, Cho YJ, Gupta N, Hawkins C, Hargrave D, Haas-Kogan DA, Jabado N, Li XN, Mueller S, Nicolaides T, Packer RJ, Persson AI, Phillips JJ, Simonds EF, Stafford JM, Tang Y, Pfister SM, Weiss WA (2017) Pediatric high-grade glioma: biologically and clinically in need of new thinking. Neuro Oncol 19(2):153–161. https://doi.org/10.1093/neuonc/now101
Aboian MS, Solomon DA, Felton E, Mabray MC, Villanueva-Meyer JE, Mueller S, Cha S (2017) Imaging characteristics of pediatric diffuse midline gliomas with histone H3 K27M mutation. AJNR Am J Neuroradiol 38(4):795–800. https://doi.org/10.3174/ajnr.A5076
Cheng L, Wang L, Yao Q, Ma L, Duan W, Guan J, Zhang C, Wang K, Liu Z, Wang X, Wang Z, Wu H, Chen Z, Jian F (2021) Clinicoradiological characteristics of primary spinal cord H3 K27M-mutant diffuse midline glioma. J Neurosurg Spine 1–12. https://doi.org/10.3171/2021.4.SPINE2140
Wang YZ, Zhang YW, Liu WH, Chai RC, Cao R, Wang B, An SY, Jiang WJ, Xu YL, Yang J, Jia WQ (2021) Spinal cord diffuse midline gliomas with H3 K27m-mutant: clinicopathological features and prognosis. Neurosurgery 89(2):300–307. https://doi.org/10.1093/neuros/nyab174
Kumar A, Rashid S, Singh S, Li R, Dure LS (2019) Spinal cord diffuse midline glioma in a 4-year-old boy. Child Neurol Open 6:2329048X19842451. https://doi.org/10.1177/2329048X19842451
Okuda T, Hata N, Suzuki SO, Yoshimoto K, Arimura K, Amemiya T, Akagi Y, Kuga D, Oba U, Koga Y, Ohga S, Iwaki T, Iihara K (2018) Pediatric ganglioglioma with an H3 K27M mutation arising from the cervical spinal cord. Neuropathology. https://doi.org/10.1111/neup.12471
Cheng R, Li DP, Zhang N, Zhang JY, Zhang D, Liu TT, Yang J, Ge M (2021) Spinal cord diffuse midline glioma with histone H3 K27M mutation in a pediatric patient. Front Surg 8:616334. https://doi.org/10.3389/fsurg.2021.616334
Serrallach BL, Tran BH, Bauer DF, Mohila CA, Adesina AM, McGovern SL, Lindsay HB, Huisman TA (2022) Pediatric spinal cord diffuse midline glioma, H3 K27-altered with intracranial and spinal leptomeningeal spread: A case report. Neuroradiol J 35(5):634–639. https://doi.org/10.1177/19714009211067402
Song D, Xu D, Gao Q, Hu P, Guo F (2020) Intracranial metastases originating from pediatric primary spinal cord glioblastoma multiforme: a case report and literature review. Front Oncol 10:99. https://doi.org/10.3389/fonc.2020.00099
Handis C, Tanrikulu B, Danyeli AE, Ozek MM (2021) Spinal intramedullary H3K27M mutant glioma with vertebral metastasis: a case report. Childs Nerv Syst 37(12):3933–3937. https://doi.org/10.1007/s00381-021-05119-6
On J, Natsumeda M, Watanabe J, Saito S, Kanemaru Y, Abe H, Tsukamoto Y, Okada M, Oishi M, Yoshimura J, Kakita A, Fujii Y (2021) Low detection rate of H3K27M mutations in cerebrospinal fluid obtained from lumbar puncture in newly diagnosed diffuse midline gliomas. Diagnostics (Basel) 11(4). https://doi.org/10.3390/diagnostics11040681
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YTL and PS: Conceptualization, collecting data, writing original draft preparation. MDZ: Preparing figure. JXD: Supervision. GZ: Conceptualization, writing review and editing, supervision. All authors have read and agreed to the published version of the manuscript.
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The present study was approved by the Ethics Committee of Xuanwu Hospital, Capital Medical University. All procedures were performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments. Written informed consent was obtained from the legal guardian of the patient.
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Liu, Y., Sun, P., Zhou, M. et al. Pediatric spinal cord diffuse midline glioma with H3 K27M-alteration with leptomeningeal dissemination: a rare case with intracranial hypertension onset and no spinal cord-related symptom. Childs Nerv Syst 39, 1663–1666 (2023). https://doi.org/10.1007/s00381-023-05851-1
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DOI: https://doi.org/10.1007/s00381-023-05851-1